International consensus recommendations for management of new onset refractory status epilepticus (NORSE) including febrile infection‐related epilepsy syndrome (FIRES): Summary and clinical tools

Wickström, Ronny; Taraschenko, Olga; Dilena, Robertino; Payne, Eric T.; Specchio, Nicola; Nabbout, Rima; Koh, Sookyong; Gaspard, Nicolas; Hirsch, Lawrence J.

doi:10.1111/epi.17391

Cited by 54 publications

(79 citation statements)

References 12 publications

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“…Criteria for the diagnosis of NORSE has been introduced and accepted by the neurology community ( 3 ). In addition, evidence- and experience-based recommendations for the management of patients with NORSE have been published by experts from the International NORSE Consensus Group ( 14 , 15 ). While significant progress has been made in delineating the diagnostic and treatment approaches for NORSE, less emphasis has been placed on studying clinical outcomes, including the long-term sequalae, after the hospital discharge.…”

Section: Introductionmentioning

confidence: 99%

Seizure burden and neuropsychological outcomes of new-onset refractory status epilepticus: Systematic review

et al. 2023

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BackgroundLong-term sequelae of the new onset refractory status epilepticus (NORSE) include the development of epilepsy, cognitive deficits, and behavioral disturbances. The prevalence of these complications has been previously highlighted in case reports and case series: however, their full scope has not been comprehensively assessed.MethodsWe conducted a systematic review of the literature (PROSPERO ID CRD42022361142) regarding neurological and functional outcomes of NORSE at 30 days or longer following discharge from the hospital. A systematic review protocol was developed using guidance from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).ResultsOf the 1,602 records for unique publications, 33 reports on adults and 52 reports on children met our inclusion criteria. They contained the description of 280 adults and 587 children of whom only 75.7 and 85% of patients, respectively had data on long-term follow-up. The mean age of adult and pediatric patients was 34.3 and 7.9 years, respectively; and the longest duration of follow up were 11 and 20 years, respectively. Seizure outcomes received major attention and were highlighted for 93.4 and 96.6% of the adult and pediatric NORSE patients, respectively. Seizures remained medically refractory in 41.1% of adults and 57.7% of children, while seizure freedom was achieved in only 26 and 23.3% of these patients, respectively. The long-term cognitive outcome data was provided for just 10.4% of the adult patients. In contrast, cognitive health data were supplied for 68.9% of the described children of whom 31.9% were moderately or severely disabled. Long-term functional outcomes assessed with various standardized scales were reported in 62.2 and 25.5% of the adults and children, respectively with majority of patients not being able to return to a pre-morbid level of functioning. New onset psychiatric disorders were reported in 3.3% of adults and 11.2% of children recovering from NORSE.ConclusionThese findings concur with previous observations that the majority of adult and pediatric patients continue to experience recurrent seizures and suffer from refractory epilepsy. Moderate to severe cognitive disability, loss of functional independence, and psychiatric disorders represent a hallmark of chronic NORSE signifying the major public health importance of this disorder.

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Section: Introductionmentioning

confidence: 99%

Seizure burden and neuropsychological outcomes of new-onset refractory status epilepticus: Systematic review

et al. 2023

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“…Given the poor yield of alternative genetic testing modalities overall, Whole Exome Sequencing with mitochondrial DNA stands as the most comprehensive, efficient, and cost-effective testing and has been considered the gold standard for diagnostic testing. While we have the capability to perform NGS, this has not been routinely done as demonstrated in our cohort, and even recent consensus guidelines, genetic testing was not recommended as an initial test but only as a later tier of testing [36].…”

Section: Discussionmentioning

confidence: 99%

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

deCampo

Xian

Karlin

et al. 2023

Preprint

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Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor. Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES. We performed a systematic computational analysis to identify individuals with FIRES and characterize the clinical landscape using the Electronic Medical Records (EMR). Among 25 individuals with a confirmed FIRES diagnosis over the last decade, we performed a comprehensive review of genetic testing and other diagnostic testing. Management included use of steroids and intravenous immunoglobulin (IVIG) in most individuals, followed by the ketogenic diet, and, after 2014, an increasing use of immunosuppressants, IVIG, and plasma exchange (PLEX). Genetic testing was performed on a clinical basis in almost all individuals and was non-diagnostic in all patients. We compared FIRES with both status epilepticus (SE) and refractory status epilepticus (RSE) as a broader comparison cohort and identified genetic causes in 36% of patients with RSE. In summary, despite the absence of any identifiable etiologies in FIRES, we performed an unbiased analysis of the clinical landscape, identifying a heterogeneous range of treatment strategies and characterized real-world clinical practice. FIRES remains one of the most enigmatic conditions in child neurology without any known etiologies to date despite significant efforts in the field, suggesting a clear need for further studies and novel diagnostic and treatment approaches. Furthermore, the difference in genetic signatures between FIRES and RSE suggest distinct underlying etiologies.

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“…This is indeed what was recently done by a group of researchers and clinicians, including adult and child neurologists, through a Delphi method. The published recommendations are available in a concise summarized version [53 ▪▪ ], as well as in a full version [54 ▪ ] that contains detailed commentaries on the reasons for recommendations, agreement and disagreement. Although it is beyond the scope of this review to review all the recommendations, some of them will be highlighted.…”

Section: Standardizing Management: Delphi-based Recommendationsmentioning

confidence: 99%

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome

Sculier

Gaspard

2023

Current Opinion in Neurology

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Purpose of reviewThe concept and understanding of new-onset refractory status epilepticus (NORSE), and its subtype with prior fever known as febrile infection-related epilepsy syndrome (FIRES) have evolved in the recent past. This review aims to summarize the recent developments in the pathophysiology, diagnosis and management of these challenging conditions.Recent findingsNORSE and FIRES can have many different causes. Although the list of possible causes is still growing, they mostly fall in the categories of autoimmune encephalitis and genetic disorders. However, despite extensive investigations, most cases of NORSE and FIRES remain cryptogenic. Recent studies have pointed towards the key role of autoinflammation as a unifying pathophysiological mechanism in these cases. These findings also support the use of immunomodulatory treatment in this setting. Consensus recommendations on the management of NORSE and FIRES have recently been published.SummaryNORSE and FIRES remain challenging conditions to diagnose and treat. Recent findings from clinical and basic research and new recommendations, reviewed in this article, contribute to an emerging framework for management and future research.

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International consensus recommendations for management of new onset refractory status epilepticus (NORSE) including febrile infection‐related epilepsy syndrome (FIRES): Summary and clinical tools

Cited by 54 publications

References 12 publications

Seizure burden and neuropsychological outcomes of new-onset refractory status epilepticus: Systematic review

Seizure burden and neuropsychological outcomes of new-onset refractory status epilepticus: Systematic review

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome

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